Variant report

Variant	rs12915891
Chromosome Location	chr15:74485762-74485763
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr15:74485714-74485993	MCF10A-Er-Src	breast:	n/a	n/a
2	CHD2	chr15:74485578-74486014	Hela-S3	cervix:	n/a	n/a
3	FOS	chr15:74485584-74486013	MCF10A-Er-Src	breast:	n/a	chr15:74485961-74485975 chr15:74485740-74485751
4	GATA3	chr15:74485432-74486270	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr15:74485657-74485937	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr15:74485531-74486124	SK-N-SH	brain:	n/a	n/a
7	RUNX3	chr15:74485496-74486004	GM12878	blood:	n/a	n/a
8	CTCF	chr15:74485700-74485850	BE2_C	brain:	n/a	n/a
9	FOSL1	chr15:74485400-74486250	HCT-116	colon:	n/a	chr15:74485961-74485975
10	TFAP2C	chr15:74485610-74486103	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:74485573-74485985	SK-N-MC	brain:	n/a	n/a
12	TCF12	chr15:74485534-74486242	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr15:74485574-74486038	Hela-S3	cervix:	n/a	n/a
14	EP300	chr15:74485393-74486271	SK-N-SH	brain:	n/a	chr15:74485922-74485938 chr15:74485886-74485900
15	MAFK	chr15:74485615-74485995	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr15:74485572-74485956	SK-N-SH_RA	brain:	n/a	n/a
17	ZKSCAN1	chr15:74485659-74486078	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:74485579-74486193	U87	brain:	n/a	n/a
19	TFAP2A	chr15:74485606-74486050	Hela-S3	cervix:	n/a	n/a
20	TEAD4	chr15:74485370-74486166	SK-N-SH	brain:	n/a	n/a
21	RCOR1	chr15:74485588-74485960	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr15:74485664-74485913	MCF10A-Er-Src	breast:	n/a	n/a
23	RAD21	chr15:74485619-74486074	IMR90	lung:	n/a	n/a
24	POLR2A	chr15:74485620-74486345	A549	lung:	n/a	n/a
25	FOS	chr15:74485549-74486073	MCF10A-Er-Src	breast:	n/a	chr15:74485961-74485975 chr15:74485740-74485751
26	JUND	chr15:74485569-74486012	Hela-S3	cervix:	n/a	chr15:74485961-74485975
27	FOSL2	chr15:74485544-74486032	A549	lung:	n/a	chr15:74485961-74485975
28	NFIC	chr15:74485503-74486105	ECC-1	luminal epithelium:	n/a	n/a
29	BATF	chr15:74485565-74485981	GM12878	blood:	n/a	chr15:74485884-74485894 chr15:74485742-74485753
30	POLR2A	chr15:74485673-74486071	GM12892	blood:	n/a	n/a
31	JUND	chr15:74485639-74486047	A549	lung:	n/a	chr15:74485961-74485975
32	STAT3	chr15:74485572-74486052	MCF10A-Er-Src	breast:	n/a	n/a
33	JUN	chr15:74485550-74486024	Hela-S3	cervix:	n/a	chr15:74485961-74485975
34	EP300	chr15:74485528-74485953	SK-N-SH_RA	brain:	n/a	chr15:74485922-74485938 chr15:74485886-74485900
35	STAT3	chr15:74485565-74485992	Hela-S3	cervix:	n/a	n/a
36	FOS	chr15:74485583-74486064	HUVEC	blood vessel:	n/a	chr15:74485961-74485975 chr15:74485740-74485751
37	NR3C1	chr15:74485619-74485995	A549	lung:	n/a	n/a
38	RXRA	chr15:74485487-74486135	SK-N-SH	brain:	n/a	n/a
39	FOSL2	chr15:74485492-74486191	SK-N-SH	brain:	n/a	chr15:74485961-74485975
40	EBF1	chr15:74485611-74486036	GM12878	blood:	n/a	n/a
41	YY1	chr15:74485587-74485977	SK-N-SH_RA	brain:	n/a	n/a
42	PBX3	chr15:74485438-74486266	SK-N-SH	brain:	n/a	n/a
43	EP300	chr15:74485554-74486036	Hela-S3	cervix:	n/a	chr15:74485922-74485938 chr15:74485886-74485900
44	RAD21	chr15:74485490-74486189	SK-N-SH_RA	brain:	n/a	n/a
45	MAX	chr15:74485628-74485999	Hela-S3	cervix:	n/a	n/a
46	BATF	chr15:74485585-74485896	GM12878	blood:	n/a	chr15:74485884-74485894 chr15:74485742-74485753
47	KAP1	chr15:74485529-74486081	U2OS	brain:	n/a	n/a
48	KAP1	chr15:74485554-74486041	HEK293	kidney:	n/a	n/a
49	POLR2A	chr15:74485409-74486239	SK-N-SH	brain:	n/a	n/a
50	FOS	chr15:74485602-74486000	Hela-S3	cervix:	n/a	chr15:74485961-74485975 chr15:74485740-74485751

No.	Distal block	Cell Line	Cell type
1	chr15:74483505..74486452-chr15:74486727..74489080,2	MCF-7	breast:
2	chr15:74485403..74487595-chr15:74523951..74526382,2	K562	blood:
3	chr15:74481853..74488513-chr15:74489689..74497281,13	MCF-7	breast:
4	chr15:74474607..74476974-chr15:74483546..74486134,2	K562	blood:

Variant related genes	Relation type
STRA6	TF binding region
ENSG00000259264	Chromatin interaction
ENSG00000137868	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11630317	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11630924	0.83[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11631509	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11631944	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs11633687	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11639090	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11639369	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11854957	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11857410	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12899173	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12905521	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12907503	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12911581	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12912258	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12912578	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs12913041	0.92[EUR][1000 genomes]
rs13259	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs2062309	0.89[EUR][1000 genomes]
rs2415169	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs2899824	0.91[CEU][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34147822	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34234753	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34573746	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34591452	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34868798	0.91[EUR][1000 genomes]
rs35036456	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs351242	0.85[CEU][hapmap]
rs35255788	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35462746	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35661273	0.91[EUR][1000 genomes]
rs35917667	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3848160	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3848161	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs3888004	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs409856	0.91[CEU][hapmap];0.93[EUR][1000 genomes]
rs62003660	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62003661	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62005707	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62005709	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62005710	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62005711	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71399778	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72747610	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs733163	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8037531	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs923118	0.83[CEU][hapmap];0.91[EUR][1000 genomes]
rs9630417	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs971755	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs971756	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs971757	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74466200-74492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:74469200-74491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:74469400-74487600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:74469400-74493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:74470800-74492800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:74473600-74488200	Weak transcription	Right Atrium	heart
7	chr15:74474600-74487200	Weak transcription	Fetal Intestine Small	intestine
8	chr15:74478600-74491400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:74480600-74491800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:74480800-74486400	Genic enhancers	Placenta	Placenta
11	chr15:74481000-74488400	Weak transcription	Right Ventricle	heart
12	chr15:74482800-74488000	Strong transcription	Fetal Stomach	stomach
13	chr15:74483600-74486800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:74483800-74486600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:74483800-74488200	Enhancers	Hela-S3	cervix
16	chr15:74484000-74485800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:74484000-74487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:74484000-74490000	Enhancers	HSMM	muscle
19	chr15:74484200-74486600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr15:74484400-74485800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:74484600-74487400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:74484800-74485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:74484800-74486200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:74484800-74487600	Enhancers	GM12878-XiMat	blood
25	chr15:74484800-74488800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr15:74485000-74486000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:74485000-74486800	Enhancers	HMEC	breast
28	chr15:74485000-74487200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:74485000-74487400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:74485000-74487600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:74485000-74488200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:74485000-74489800	Enhancers	NH-A	brain
33	chr15:74485200-74486000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:74485200-74486000	Weak transcription	Esophagus	oesophagus
35	chr15:74485200-74486600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:74485200-74486600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:74485200-74486800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:74485200-74486800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:74485200-74487000	Enhancers	NHEK	skin
40	chr15:74485200-74487000	Enhancers	Osteobl	bone
41	chr15:74485200-74487200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:74485200-74487600	Weak transcription	Lung	lung
43	chr15:74485200-74488000	Genic enhancers	A549	lung
44	chr15:74485400-74486200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr15:74485400-74486400	Enhancers	NHDF-Ad	bronchial
46	chr15:74485400-74486800	Enhancers	NHLF	lung
47	chr15:74485400-74487600	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:74485400-74493000	Weak transcription	Fetal Thymus	thymus
49	chr15:74485600-74486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:74485600-74486400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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